Canonical Allele Identifier: CA412548139

Gene: NR0B1

Linked Data

• MyVariant Identifiers: chrX:g.30326815T>G (hg19) ; chrX:g.30308698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308698T>G , CM000685.2:g.30308698T>G	GRCh38
NC_000023.10:g.30326815T>G , CM000685.1:g.30326815T>G	GRCh37
NC_000023.9:g.30236736T>G	NCBI36
NG_009814.1:g.5681A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.666A>C MANE Select	ENSP00000368253.4:p.Gln222His
ENST00000378970.4:c.666A>C	ENSP00000368253.4:p.Gln222His
NM_000475.4:c.666A>C	NP_000466.2:p.Gln222His
NM_000475.5:c.666A>C MANE Select	NP_000466.2:p.Gln222His